Extreme phenotypes assist association studies
نویسندگان
چکیده
منابع مشابه
Genome-wide association studies with high-dimensional phenotypes.
High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been proposed for testing jointly all traits in a high-dimensional vector of phenotypes, with prospect of increased power to detect small effects that would be m...
متن کاملMethods for Analyzing Multivariate Phenotypes in Genetic Association Studies.
This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Multivariate phenotypes are frequently encountered in genetic association studies. The purpose of analyzing multivariate phenotypes usually includes discovery of novel genetic varian...
متن کاملSemantic Integration of Cervical Cancer Data Repositories to Facilitate Multicenter Association Studies: The ASSIST Approach
The current work addresses the unification of Electronic Health Records related to cervical cancer into a single medical knowledge source, in the context of the EU-funded ASSIST research project. The project aims to facilitate the research for cervical precancer and cancer through a system that virtually unifies multiple patient record repositories, physically located in different medical cente...
متن کاملAssociation Studies on Cervical Cancer Facilitated by Inference and Semantic Technologies: The Assist Approach
Cervical cancer (CxCa) is currently the second leading cause of cancer-related deaths, for women between 20 and 39 years old. As infection by the human papillomavirus (HPV) is considered as the central risk factor for CxCa, current research focuses on the role of specific genetic and environmental factors in determining HPV persistence and subsequent progression of the disease. ASSIST is an EU-...
متن کاملWhole exome sequencing of extreme age-related macular degeneration phenotypes
PURPOSE Demographic, environmental, and genetic risk factors for age-related macular degeneration (AMD) have been identified; however, a substantial portion of the variance in AMD disease risk and heritability remains unexplained. To identify AMD risk variants and generate hypotheses for future studies, we performed whole exome sequencing for 75 individuals whose phenotype was not well predicte...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nature Reviews Genetics
سال: 2012
ISSN: 1471-0056,1471-0064
DOI: 10.1038/nrg3320